Article

Language and cognitive impairment associated to a novel p.Cys63Arg change in the MED13L gene

2017-06-18

Abstract excerpt

<h4>ABSTRACT</h4> Mutations of the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported, mostly in patients with CNV. Case presentation. We report on a child who presents with a non-synonymous change p.Cys63Arg in MED13L (Chr12:116675396A>G, GRCh37) and who exhibits prof...

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Literature Corpus work: 87a1d2a8-2487-59da-aa4e-6d7d011ea85c
DOI: 10.1101/151688

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